A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2559237



Internal ID8276109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:87346304..87353689hg38UCSC Ensembl
Outerchr4:88267456..88274841hg19UCSC Ensembl
Outerchr4:88486480..88493865hg18UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg387386
hg197386
hg187386
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5286342
SamplesNA18507
Known GenesHSD17B11
MethodSequencing
AnalysisLarger insertions and deletions are found by looking at variation in mate pair distances in the 2x50 mate pair libraries. These data are included in separate files for each of three coverage values: 2.2x, 4.0x, 5.6x, and 8.4x
PlatformNot specified
CommentsoriginalFile=Yoruban_large_indels_8.4x.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)esv2559237
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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